Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000671279 | SCV000796239 | likely pathogenic | Sjögren-Larsson syndrome | 2017-12-14 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002222597 | SCV002500825 | uncertain significance | not specified | 2022-03-01 | criteria provided, single submitter | clinical testing | Variant summary: ALDH3A2 c.1443+1G>A is located in a canonical splice-site at the junction of the penultimate exon and the last intron, and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: 4/4 predict the variant abolishes a 5' splicing donor site. Though this variant might result in a frame-shift with a premature termination codon, it is not expected to cause nonsense mediated decay (NMD). However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.6e-05 in 251004 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1443+1G>A in individuals affected with Sjogren-Larsson Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic. |
| Mendelics | RCV000671279 | SCV002517549 | pathogenic | Sjögren-Larsson syndrome | 2022-05-04 | criteria provided, single submitter | clinical testing |